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Orphanet J Rare Dis. 2012 Jun 18;7:42. doi: 10.1186/1750-1172-7-42.

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.

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1
Unidad de Inmunología Hospital Universitario La Paz and Hospital La Paz Health Research Institute (IdiPAZ), Madrid, Spain.

Abstract

BACKGROUND:

Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 families with this deficiency have been described worldwide.

PATIENTS AND METHODS:

We have studied five new Spanish families suffering from CFI deficiency. From 19 screened people, 7 homozygous, 10 heterozygous and 2 healthy subjects were identified. Clinical, biochemical and genetic descriptions are included.

RESULTS:

Molecular studies demonstrated 4 novel mutations in the screened individuals; amongst them, we describe here the first great gene deletion reported in the CFI locus, which includes full exon 2 and part of the large intron 1.

CONCLUSION:

CFI deficiency is possibly an underestimated defect and the eventual existence of this deficiency should be tested in those patients exhibiting low C3 and recurrent bacterial infections. We propose a simple diagnostic flowchart to help clinicians in the identification and correct diagnosis of such patients.

PMID:
22710145
PMCID:
PMC3458969
DOI:
10.1186/1750-1172-7-42
[Indexed for MEDLINE]
Free PMC Article
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